scholarly journals CYP2C9 polymorphism analysis in Han Chinese populations: building the largest allele frequency database

2013 ◽  
Vol 14 (1) ◽  
pp. 85-92 ◽  
Author(s):  
D-P Dai ◽  
R-A Xu ◽  
L-M Hu ◽  
S-H Wang ◽  
P-W Geng ◽  
...  
Keyword(s):  
Allele Frequency ◽  
Han Chinese ◽  
Polymorphism Analysis ◽  
Chinese Populations ◽  
Cyp2c9 Polymorphism

scholarly journals Association between EFHD2 gene polymorphisms and schizophrenia among the Han population in northern China

2020 ◽  
Vol 48 (6) ◽  
pp. 030006052093280
Author(s):  
Meng Gao ◽  
Kuo Zeng ◽  
Ya Li ◽  
Yong-ping Liu ◽  
Xi Xia ◽  
...  
Keyword(s):  
Allele Frequency ◽  
Neurodevelopmental Disorder ◽  
Haplotype Frequency ◽  
Northern China ◽  
Polymorphism Analysis ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Gene Encoding ◽  
Frequency Distributions ◽  
And Control

Objective Schizophrenia is a severe neurodevelopmental disorder with a complex genetic and environmental etiology. The gene encoding EF-hand domain-containing protein D2 ( EFHD2) may be a genetic risk locus for schizophrenia. Methods We genotyped four EFHD2 single-nucleotide polymorphisms (281 schizophrenia cases [SCZ], 321 controls) from northern Chinese Han individuals using Sanger sequencing and polymerase chain reaction-restriction fragment length polymorphism analysis. Differences existed in genotype, allele, and haplotype frequency distributions between SCZ and control groups. Results The rs2473357 genotype and allele frequency distributions differed between SCZ and controls; however, this difference disappeared after Bonferroni correction. Differences in rs2473357 genotype and allele frequency distributions between SCZ and controls were more pronounced in men than in women. The G allele increased schizophrenia risk (odds ratio = 1.807, 95% confidence interval = 1.164–2.803). Among six haplotypes (G–, A–, G-insC, A-C, G-C, and G-T), the G– haplotype frequency distribution differed between SCZ and controls in women; the A-C and G-C haplotype frequency distributions differed between SCZ and controls in men. Conclusions EFHD2 may be involved in schizophrenia. Sex differences in EFHD2 genotype and allele frequency distributions existed among schizophrenia patients. Further research is needed to determine the role of EFHD2 in schizophrenia.

scholarly journals Genetic association of FOXO1A and FOXO3A with longevity trait in Han Chinese populations

2009 ◽  
Vol 18 (24) ◽  
pp. 4897-4904 ◽  
Author(s):  
Yang Li ◽  
Wen-Jing Wang ◽  
Huiqing Cao ◽  
Jiehua Lu ◽  
Chong Wu ◽  
...  
Keyword(s):  
Genetic Association ◽  
Han Chinese ◽  
Chinese Populations

Abstract TP134: Genome Wide Association Studies in Han Chinese Populations Identify Novel Susceptibility Loci for Specific Ischemic Stroke Subtypes

Stroke ◽  
2016 ◽  
Vol 47 (suppl_1) ◽  
Author(s):  
Tai-Ming Ko ◽  
Tsong-Hai Lee Lee ◽  
Chien-Hsiun Chen ◽  
Yuan-Tsong Chen ◽  
Jer-Yuarn Wu
Keyword(s):  
Ischemic Stroke ◽  
Chinese Population ◽  
Genetic Factors ◽  
Han Chinese ◽  
Genome Wide Association ◽  
Papillary Thyroid ◽  
Susceptibility Loci ◽  
Han Chinese Population ◽  
Chinese Populations ◽  
Genome Wide

Introduction: Although family history studies in ischemic stroke support that genetic factors may be involved in the pathogenesis of two major subtypes of ischemia stroke: large-artery atherosclerosis (LAA) and small-vessel occlusion (SVO), it is still unclear which particular genetic factors contribute to LAA or SVO. Hypothesis: Because the etiology of ischemic stroke is heterogeneous, we hypothesize that genetic factors may vary by etiologic subtypes or ethnicities. Thus, we aim to identify genetic factors that contribute to LAA or SVO based on two independent Han Chinese populations. Methods: Novel genetic variants that predispose individuals to LAA and SVO were identified by genome-wide association study comprising of 824 individuals (including 444 LAA cases and 380 SVO cases) and 1,727 controls in a Han Chinese population residing in Taiwan. The LAA study was replicated in an independent Han Chinese population comprising of an additional 319 LAA cases and 1,802 controls. Results: In LAA cases, from two independent populations, we identified five single-nucleotide polymorphisms (SNPs), including SNP-1 (P = 3.10 х 10–8), SNP-2 (P = 4.00 х 10–9), SNP-3 (P = 3.57 х 10–8), SNP-4 (P = 1.76 х 10–8), and SNP-5 (P = 2.92 х 10–8), at one novel locus on chromosome 14q13.3 within PTCSC3 (encoding papillary thyroid carcinoma susceptibility candidate 3). In SVO cases, from the discovery stage, we identified two novel candidate susceptibility loci on chromosome 3p25.3 (SNP-6, P = 3.24 х 10–5) and chromosome 14 q31.1 (SNP-7, P = 2.58 х 10–4). Conclusions: For LAA, the newly identified SNPs within PTCSC3 gene were found to have genome-wide statistical significance (P < 5 х 10–8) and were shown to be located in a risk locus correlated with papillary thyroid carcinoma. Moreover, the genetic association between PTCSC3 gene and SVO was not identified, which suggested that PTCSC3 is a specific susceptibility locus for LAA. For SVO, we identified two novel candidate genetic loci which were valuable for replication by an independent population with SVO. In conclusion, our findings provide insights into the genetic basis of LAA and SVO, which may be applicable in the study of the pathogenesis of ischemic stroke and in the development of alternative therapeutic interventions.

PFN1 mutations are rare in Han Chinese populations with amyotrophic lateral sclerosis

2013 ◽  
Vol 34 (7) ◽  
pp. 1922.e1-1922.e5 ◽  
Author(s):  
YongPing Chen ◽  
Zhen-Zhen zheng ◽  
Rui Huang ◽  
Ke Chen ◽  
Wei Song ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Han Chinese ◽  
Chinese Populations ◽  
Lateral Sclerosis

A novel block at chromosome 12q24.1 is associated with coronary artery disease in Han Chinese populations

2016 ◽  
Vol 26 (11) ◽  
pp. 497-504 ◽  
Author(s):  
Feng Jiang ◽  
Han Yan ◽  
Chong Wu ◽  
Chun Song ◽  
Bin Zhao ◽  
...  
Keyword(s):  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Han Chinese ◽  
Chinese Populations ◽  
Artery Disease

scholarly journals A Genetic Variant in Vitamin B12 Metabolic Genes That Reduces the Risk of Congenital Heart Disease in Han Chinese Populations

PLoS ONE ◽  
2014 ◽  
Vol 9 (2) ◽  
pp. e88332 ◽  
Author(s):  
Jue Wang ◽  
Jian-Yuan Zhao ◽  
Feng Wang ◽  
Qian-Qian Peng ◽  
Jia Hou ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Vitamin B12 ◽  
Congenital Heart ◽  
Genetic Variant ◽  
Han Chinese ◽  
Chinese Populations ◽  
Metabolic Genes
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